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Gene dosage effects in chronic lymphocytic leukemia
Cancer Genetics and Cytogenetics, 2010To understand the influence of chromosomal alterations on gene expression in a genome-wide view, chromosomal imbalances detected by single nucleotide polymorphism (SNP) chips were compared with global gene expression in 16 cases of chronic lymphocytic leukemia (CLL).
Sellmann L +14 more
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Gene dosage effect in human trisomy 16
Nature, 1975AFTER the discovery of autosomal trisomies in man, the activity of various enzymes in trisomic cells was measured in the belief that proportionality between gene dose and enzyme activity would help in identifying genes carried by trisomic chromosomes1–5.
B, Marimo, F, Giannelli
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Evolutionary constraints imposed by gene dosage balance
Frontiers in Bioscience, 2008The gene dosage balance hypothesis states that a concentration imbalance among components of macromolecules is often deleterious. Thus this notion potentially provides a mechanistic explanation for understanding genetic dominance and gene duplicability.
Han, Liang, Ariel, Fernandez
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Blood, 2007
In this issue of Blood , Joslin and colleagues provide new evidence that EGR1 haploinsufficiency may contribute to myeloid diseases associated with loss of a whole chromosome 5 or a deletion of the long arm, del(5q).
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In this issue of Blood , Joslin and colleagues provide new evidence that EGR1 haploinsufficiency may contribute to myeloid diseases associated with loss of a whole chromosome 5 or a deletion of the long arm, del(5q).
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Cooperation to amplify gene-dosage-imbalance effects
Trends in Molecular Medicine, 2006Trisomy 21, also known as Down syndrome (DS), is a complex developmental disorder that affects many organs, including the brain, heart, skeleton and immune system. A working hypothesis for understanding the consequences of trisomy 21 is that the overexpression of certain genes on chromosome 21, alone or in cooperation, is responsible for the clinical ...
Susana, de la Luna, Xavier, Estivill
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Gene modulation in Drosophila: Dosage compensation and relocated v + genes
Biochemical Genetics, 1971The v + gene of Drosophila and its associated enzyme, tryptophan pyrrolase, were employed in a study of the relationship between dosage compensation and the location of the gene in the genome. Enzyme assays performed on various genotypes indicate that although differently positioned genes may specify different enzyme activities, they still show dosage ...
J, Tobler, J T, Bowman, J R, Simmons
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Gene dosage balance: deletions, duplications and dominance
Trends in Genetics, 2005The number of known human genes whose heterozygous null alleles lead to disease (i.e. haploinsufficient genes) is increasing. A recent update shows that they encode preferentially structural proteins, transcription regulators, signal transduction elements and various binding factors [1].
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The Gene Balance Hypothesis: Dosage Effects in Plants
2014The concept of genomic balance traces to the early days of genetics. In recent years, studies of gene expression have found parallels to the classical phenotypic studies in that aneuploid changes have greater effects than whole genome changes. This has an explanation in terms of potential stoichiometric imbalances of the gene products encoded in the ...
Birchler, James A, Veitia, Reiner A
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Cancer epigenetics in clinical practice
Ca-A Cancer Journal for Clinicians, 2023Veronica Davalos, Manel Esteller
exaly